The MMACHC proteome: hallmarks of functional cobalamin deficiency in humans.

@article{Hannibal2011TheMP,
  title={The MMACHC proteome: hallmarks of functional cobalamin deficiency in humans.},
  author={Luciana Hannibal and Patricia M Dibello and Michelle Yu and Abby Y Miller and Sihe Wang and Belinda Willard and David S. Rosenblatt and Donald W. Jacobsen},
  journal={Molecular genetics and metabolism},
  year={2011},
  volume={103 3},
  pages={226-39}
}
Cobalamin (Cbl, B(12)) is an essential micronutrient required to fulfill the enzymatic reactions of cytosolic methylcobalamin-dependent methionine synthase and mitochondrial adenosylcobalamin-dependent methylmalonyl-CoA mutase. Mutations in the MMACHC gene (cblC complementation group) disrupt processing of the upper-axial ligand of newly internalized cobalamins, leading to functional deficiency of the vitamin. Patients with cblC disease present with both hyperhomocysteinemia and methylmalonic… CONTINUE READING